Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	ACHILLES_Top_Genes	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NECAP2	55707	broad.mit.edu	37	1	16778419	16778419	+	Silent	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:16778419A>T	uc001ayo.2	+	6	666	c.576A>T	c.(574-576)CCA>CCT	p.P192P	NECAP2_uc001ayp.3_RNA|NECAP2_uc010ocd.1_Silent_p.P166P|NECAP2_uc001ayq.2_Silent_p.P192P	NM_018090	NP_060560	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2 isoform 1	192				P -> S (in Ref. 2; BAG63581).	endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane					0		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCTCCCCCAGGGGGGAAAA	0.622			NA											30	68					0	0	0.007291	0	0
CRYZ	1429	broad.mit.edu	37	1	75175927	75175927	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:75175927C>T	uc001dgk.2	-	7	990	c.485G>A	c.(484-486)GGA>GAA	p.G162E	CRYZ_uc001dgj.2_Missense_Mutation_p.G162E|CRYZ_uc001dgl.2_Missense_Mutation_p.G162E|CRYZ_uc001dgm.2_Missense_Mutation_p.G25E	NM_001130042	NP_001123514	Q08257	QOR_HUMAN	crystallin, zeta isoform a	162					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding				0					Dicumarol(DB00266)	TGCTGCTAATCCAACCTGAAA	0.378			NA											20	41					0	0	0.008871	0	0
AK5	26289	broad.mit.edu	37	1	77759485	77759485	+	Silent	SNP	T	T	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:77759485T>A	uc001dhn.2	+	3	512	c.255T>A	c.(253-255)CCT>CCA	p.P85P	AK5_uc001dho.2_Silent_p.P59P|AK5_uc001dhm.1_Intron	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5 isoform 1	85					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			skin(1)	1						CAGTAATGCCTGAAAACTCAA	0.368			NA											22	40					0	0	0.001882	0	0
LPPR5	163404	broad.mit.edu	37	1	99387536	99387536	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:99387536C>G	uc001dsb.2	-	4	922	c.700G>C	c.(700-702)GCA>CCA	p.A234P	LPPR5_uc001dsc.2_Missense_Mutation_p.A234P	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	phosphatidic acid phosphatase type 2d isoform 1	234	Helical; (Potential).					integral to membrane	hydrolase activity				0						GTAAGAAATGCCAAACACATT	0.383			NA											19	54					0	0	0.007413	0	0
COL11A1	1301	broad.mit.edu	37	1	103412505	103412505	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:103412505G>T	uc001dul.2	-	42	3494	c.3176C>A	c.(3175-3177)CCA>CAA	p.P1059Q	COL11A1_uc001duk.2_Missense_Mutation_p.P255Q|COL11A1_uc001dum.2_Missense_Mutation_p.P1071Q|COL11A1_uc001dun.2_Missense_Mutation_p.P1020Q|COL11A1_uc009weh.2_Missense_Mutation_p.P943Q	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1059	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACGTTCTCCTGGTGAGCCCTA	0.463			NA											10	15					4.68919e-08	5.48014e-08	0.008291	1	0
KCND3	3752	broad.mit.edu	37	1	112524989	112524989	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:112524989G>C	uc001ebu.1	-	2	840	c.360C>G	c.(358-360)TTC>TTG	p.F120L	KCND3_uc001ebv.1_Missense_Mutation_p.F120L	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	120	Cytoplasmic (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGATGCCGTAGAAGGCCAGCT	0.627			NA											19	43					0	0	0.007413	0	0
HSD3B2	3284	broad.mit.edu	37	1	119985577	119985577	+	Silent	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:119985577G>A	uc001ehu.2	+	4	526	c.384G>A	c.(382-384)CAG>CAA	p.Q128Q				P26439	3BHS2_HUMAN	RecName: Full=3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2; AltName: Full=3-beta-HSD II; Includes:   RecName: Full=3-beta-hydroxy-Delta(5)-steroid dehydrogenase;            EC=1.1.1.145;   AltName: Full=3-beta-hydroxy-5-ene steroid dehydrogenase;   AltName: Full=Progesterone reductase; Includes:   RecName: Full=Steroid Delta-isomerase;            EC=5.3.3.1;   AltName: Full=Delta-5-3-ketosteroid isomerase;	Error:Variant_position_missing_in_P26439_after_alignment					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GAGCCTGCCAGGACGTGTCGG	0.498			NA											16	31					0	0	0.004007	0	0
REG4	83998	broad.mit.edu	37	1	120351358	120351358	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:120351358A>T	uc001eig.2	-	3	475	c.35T>A	c.(34-36)CTG>CAG	p.L12Q	REG4_uc001eif.2_Missense_Mutation_p.L12Q|REG4_uc001eih.1_Missense_Mutation_p.L12Q	NM_001159352	NP_001152824	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	12						extracellular region	sugar binding			ovary(1)	1	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		CAGGCAGCTCAGCAATAGGAG	0.532			NA									OREG0013729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	36					0	0	0.004007	0	0
HCN3	57657	broad.mit.edu	37	1	155258202	155258202	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:155258202C>T	uc001fjz.1	+	8	2281	c.2273C>T	c.(2272-2274)CCA>CTA	p.P758L	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Missense_Mutation_p.P453L	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	758	Cytoplasmic (Potential).|Pro-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCAGGCCACCAGTGCCTGAG	0.602			NA											27	108					0	0	0.004656	0	0
LHX4	89884	broad.mit.edu	37	1	180235559	180235559	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:180235559A>T	uc001goe.1	+	3	504	c.281A>T	c.(280-282)CAG>CTG	p.Q94L		NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	94	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						GCCTGCCAGCAGGGTATCCCC	0.617			NA											5	122					0	0	0.000602	0	0
PTGS2	5743	broad.mit.edu	37	1	186645094	186645094	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:186645094G>A	uc001gsb.2	-	8	1330	c.1193C>T	c.(1192-1194)TCT>TTT	p.S398F	PTGS2_uc009wyo.2_Missense_Mutation_p.S245F	NM_000963	NP_000954	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 precursor	398					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|central_nervous_system(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	CAGCAATATAGAGTTGTTGTA	0.383			NA											7	134					0	0	0.001984	0	0
ASPM	259266	broad.mit.edu	37	1	197069621	197069621	+	Silent	SNP	A	A	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:197069621A>G	uc001gtu.2	-	18	9017	c.8760T>C	c.(8758-8760)AGT>AGC	p.S2920S	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Silent_p.S768S	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2920	IQ 33.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TAAATCCTTTACTTCTAGCTT	0.289			NA											19	49					0	0	0.006122	0	0
CYB5R1	51706	broad.mit.edu	37	1	202931772	202931772	+	Silent	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:202931772G>A	uc001gyt.2	-	9	872	c.801C>T	c.(799-801)CCC>CCT	p.P267P		NM_016243	NP_057327	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	267					sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(75;0.141)			CCCCTGGAGCGGGCAGGTGTT	0.537			NA											4	87					0	0	0.009096	0	0
CR1	1378	broad.mit.edu	37	1	207782718	207782718	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:207782718G>T	uc001hfy.2	+	29	4770	c.4630G>T	c.(4630-4632)GTA>TTA	p.V1544L	CR1_uc009xcl.1_Missense_Mutation_p.V1094L|CR1_uc001hfx.2_Missense_Mutation_p.V1994L	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1544	Extracellular (Potential).|Sushi 24.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						TGGAACGGTGGTAACTTACCA	0.448			NA											24	77					1.64293e-13	2.0969e-13	0.00333	1	0
USH2A	7399	broad.mit.edu	37	1	215824106	215824106	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:215824106C>G	uc001hku.1	-	65	14558	c.14171G>C	c.(14170-14172)AGC>ACC	p.S4724T		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4724	Fibronectin type-III 32.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCATGTCCAGCTACTGGGGGC	0.512			NA								HNSCC(13;0.011)			56	127					0	0	0.00361	0	0
LYST	1130	broad.mit.edu	37	1	235937220	235937220	+	Silent	SNP	T	T	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:235937220T>C	uc001hxj.2	-	19	5881	c.5706A>G	c.(5704-5706)GTA>GTG	p.V1902V	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	1902					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CATTAGAGTCTACATCCAACT	0.328			NA							Chediak-Higashsyndrome				33	79					0	0	0.003271	0	0
OR2L8	391190	broad.mit.edu	37	1	248112914	248112914	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:248112914C>A	uc001idt.1	+	1	755	c.755C>A	c.(754-756)GCA>GAA	p.A252E	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	252	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTCTACTATGCACCTTTTGTC	0.478			NA											37	160					2.3623e-07	2.6958e-07	0.002522	1	0
OR14C36	127066	broad.mit.edu	37	1	248512689	248512689	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:248512689G>T	uc010pzl.1	+	1	613	c.613G>T	c.(613-615)GGT>TGT	p.G205C		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C,	205	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						TCTGGGGGTAGGTGGCGGCTG	0.478			NA											28	103					1.39806e-14	1.82029e-14	0.008361	1	0
MCM10	55388	broad.mit.edu	37	10	13217680	13217680	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr10:13217680A>T	uc001ima.2	+	6	867	c.766A>T	c.(766-768)AGG>TGG	p.R256W	MCM10_uc001imb.2_Missense_Mutation_p.R255W|MCM10_uc001imc.2_Missense_Mutation_p.R255W	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	256					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						TCTGCGGCTCAGGTCAGTAGC	0.493			NA											54	110					0	0	0.00361	0	0
BTAF1	9044	broad.mit.edu	37	10	93767940	93767940	+	Silent	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr10:93767940C>A	uc001khr.2	+	26	3819	c.3721C>A	c.(3721-3723)CGA>AGA	p.R1241R		NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	1241					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				AGCCAAGGAGCGACACTTTTT	0.343			NA											46	86					4.10826e-27	5.94778e-27	0.00361	1	0
BTAF1	9044	broad.mit.edu	37	10	93767954	93767954	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr10:93767954G>C	uc001khr.2	+	26	3833	c.3735G>C	c.(3733-3735)GAG>GAC	p.E1245D		NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	1245					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				ACTTTTTGGAGCAATTGTTAG	0.338			NA											37	73					0	0	0.007835	0	0
HELLS	3070	broad.mit.edu	37	10	96341154	96341154	+	Silent	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr10:96341154G>A	uc001kjt.2	+	11	1209	c.1104G>A	c.(1102-1104)AGG>AGA	p.R368R	HELLS_uc001kjs.2_Silent_p.R352R|HELLS_uc009xul.2_Intron|HELLS_uc009xum.2_Intron|HELLS_uc009xun.2_Silent_p.R244R|HELLS_uc009xuo.2_Silent_p.R368R|HELLS_uc001kju.2_Silent_p.R7R|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_Silent_p.R230R|HELLS_uc009xur.2_Intron	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	368	Helicase ATP-binding.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			ovary(1)|kidney(1)	2		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GTCTAATCAGGGAGTTAAAAC	0.338			NA											23	31					0	0	0.002299	0	0
KNDC1	85442	broad.mit.edu	37	10	135003264	135003264	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr10:135003264G>A	uc001llz.1	+	9	1523	c.1522G>A	c.(1522-1524)GAC>AAC	p.D508N	KNDC1_uc001lma.1_Missense_Mutation_p.D443N	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	508	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGGTTCCTATGACTCGTTCTT	0.493			NA											10	28					0	0	0.008291	0	0
BRSK2	9024	broad.mit.edu	37	11	1464822	1464822	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr11:1464822T>C	uc001lti.2	+	8	1123	c.737T>C	c.(736-738)CTG>CCG	p.L246P	BRSK2_uc009ycv.1_Missense_Mutation_p.L246P|BRSK2_uc001lth.1_Missense_Mutation_p.L246P|BRSK2_uc001ltj.2_Missense_Mutation_p.L246P|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Missense_Mutation_p.L246P|BRSK2_uc001ltm.2_Missense_Mutation_p.L292P|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	246	Protein kinase.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TGCCAGAGTCTGCTACGGGGC	0.597			NA											7	8					0	0	0.006214	0	0
ZNF195	7748	broad.mit.edu	37	11	3380864	3380864	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr11:3380864C>G	uc001lxt.2	-	6	1552	c.1374G>C	c.(1372-1374)AGG>AGC	p.R458S	uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Missense_Mutation_p.R435S|ZNF195_uc001lxs.2_Missense_Mutation_p.R386S|ZNF195_uc010qxr.1_Missense_Mutation_p.R439S|ZNF195_uc009ydz.2_Missense_Mutation_p.R413S|ZNF195_uc001lxu.2_Missense_Mutation_p.R390S	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	zinc finger protein 195 isoform 1	458	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CGGTGTGAATCCTCCTGTGTT	0.423			NA											43	54					0	0	0.009718	0	0
OR51M1	390059	broad.mit.edu	37	11	5410885	5410885	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr11:5410885G>T	uc010qzc.1	+	1	257	c.257G>T	c.(256-258)TGT>TTT	p.C86F	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M,	86						integral to membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGGCTGTGTGTGTCCACG	0.473			NA											48	89					1.61863e-15	2.18065e-15	0.00361	1	0
RBMXL2	27288	broad.mit.edu	37	11	7111194	7111194	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr11:7111194G>T	uc001mfc.2	+	1	1030	c.843G>T	c.(841-843)GAG>GAT	p.E281D		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	281	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCCATCGAGAGCCCTTTGAGA	0.662			NA											16	23					6.31663e-08	7.25104e-08	0.003163	1	0
OR5A1	219982	broad.mit.edu	37	11	59210760	59210760	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr11:59210760C>A	uc001nnx.1	+	1	119	c.119C>A	c.(118-120)ACC>AAC	p.T40N		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2						ATCTATCTTACCACCCTGGCC	0.502			NA											53	96					2.31418e-15	3.09621e-15	0.00361	1	0
VWF	7450	broad.mit.edu	37	12	6103248	6103248	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:6103248G>C	uc001qnn.1	-	37	6628	c.6378C>G	c.(6376-6378)ATC>ATG	p.I2126M	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2126	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	GCTCCTCCAGGATGGGCTGGC	0.572			NA											28	39					0	0	0.004656	0	0
CD4	920	broad.mit.edu	37	12	6923458	6923458	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:6923458T>C	uc001qqv.1	+	4	610	c.365T>C	c.(364-366)GTG>GCG	p.V122A	CD4_uc009zez.1_Missense_Mutation_p.V67A|CD4_uc009zfa.1_RNA|CD4_uc009zfb.1_RNA|CD4_uc010sfj.1_5'UTR|CD4_uc009zfc.1_5'UTR|CD4_uc010sfk.1_Intron|CD4_uc010sfl.1_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	CD4 antigen precursor	122	Extracellular (Potential).|Ig-like V-type.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)				CAATTGCTAGTGTTCGGATGT	0.517			NA											24	30					0	0	0.00333	0	0
USP5	8078	broad.mit.edu	37	12	6972375	6972375	+	Silent	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:6972375G>A	uc001qri.3	+	15	1847	c.1788G>A	c.(1786-1788)GAG>GAA	p.E596E	USP5_uc001qrh.3_Silent_p.E596E	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	596					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			lung(2)|breast(1)|skin(1)	4						TGCCAGAGGAGCTCGACATCT	0.612			NA											3	56					0	0	0.004672	0	0
CLEC4C	170482	broad.mit.edu	37	12	7894063	7894063	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:7894063C>A	uc001qtg.1	-	3	363	c.189G>T	c.(187-189)CAG>CAT	p.Q63H	CLEC4C_uc001qth.1_Missense_Mutation_p.Q63H|CLEC4C_uc001qti.1_Missense_Mutation_p.Q32H	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C isoform	63	Extracellular (Potential).				innate immune response	integral to membrane	sugar binding			ovary(2)|skin(1)	3				Kidney(36;0.0915)		TTGGATGATACTGTTGATACT	0.418			NA											33	72					9.45814e-24	1.33933e-23	0.004878	1	0
TAS2R19	259294	broad.mit.edu	37	12	11175134	11175134	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:11175134C>G	uc010shj.1	-	1	37	c.37G>C	c.(37-39)GTA>CTA	p.V13L	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176888	NP_795369	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	13	Helical; Name=1; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			skin(1)	1						GCAAACACTACCAGAATTGAT	0.388			NA											18	50					0	0	0.001882	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54677000	54677000	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:54677000G>T	uc001sfl.2	+	8	993	c.889G>T	c.(889-891)GGC>TGC	p.G297C	HNRNPA1_uc001sfm.2_Intron|HNRNPA1_uc009zng.2_Intron|HNRNPA1_uc009znh.2_Intron|HNRNPA1_uc009zni.2_Intron|HNRNPA1_uc001sfn.2_Intron|HNRNPA1_uc001sfo.3_Intron|HNRNPA1_uc009znj.1_Intron	NM_031157	NP_112420	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	297	Gly-rich.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			skin(2)|ovary(1)	3						AGGCGGAGGCGGCTTTGGCGG	0.527	Colon(83;502 1289 8436 16406 24870)		NA											8	18					0.000157383	0.000170572	0.00308	1	0
APAF1	317	broad.mit.edu	37	12	99076942	99076942	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:99076942G>A	uc001tfz.2	+	15	2645	c.2068G>A	c.(2068-2070)GAA>AAA	p.E690K	APAF1_uc001tfy.2_Missense_Mutation_p.E679K|APAF1_uc001tga.2_Missense_Mutation_p.E679K|APAF1_uc001tgb.2_Missense_Mutation_p.E690K|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Missense_Mutation_p.E99K	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	690	WD 2.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)	TATGACTGGGGAACTAGTACA	0.403			NA											36	47					0	0	0.003271	0	0
GIT2	9815	broad.mit.edu	37	12	110370853	110370853	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:110370853T>C	uc001tps.2	-	20	2375	c.2210A>G	c.(2209-2211)CAG>CGG	p.Q737R	TCHP_uc001tpo.1_RNA|GIT2_uc001tpr.2_3'UTR|GIT2_uc001tpq.2_Missense_Mutation_p.Q707R|GIT2_uc001tpv.2_Missense_Mutation_p.Q659R|GIT2_uc001tpu.2_Missense_Mutation_p.Q657R|GIT2_uc001tpt.2_Missense_Mutation_p.Q609R|GIT2_uc010sxu.1_Missense_Mutation_p.Q645R	NM_057169	NP_476510	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting	737					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			central_nervous_system(1)	1						GTACGCACACTGGATGACCTG	0.433			NA											13	30					0	0	0.001855	0	0
AACS	65985	broad.mit.edu	37	12	125621282	125621282	+	Missense_Mutation	SNP	C	C	G	rs141114409		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:125621282C>G	uc001uhc.2	+	17	1959	c.1753C>G	c.(1753-1755)CTC>GTC	p.L585V	AACS_uc001uhd.2_Intron|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_Missense_Mutation_p.L183V	NM_023928	NP_076417	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	585					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			ovary(1)|liver(1)|central_nervous_system(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GAGGGTGATCCTCTTCCTGAA	0.592			NA											21	48					0	0	0.002299	0	0
PIWIL1	9271	broad.mit.edu	37	12	130847575	130847575	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:130847575C>A	uc001uik.2	+	18	2171	c.2081C>A	c.(2080-2082)CCC>CAC	p.P694H	PIWIL1_uc001uij.1_Missense_Mutation_p.P694H	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	694	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GAGTACATGCCCAGCCGGATC	0.488			NA											29	70					6.38683e-12	8.04575e-12	0.008361	1	0
LECT1	11061	broad.mit.edu	37	13	53286940	53286940	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr13:53286940G>T	uc001vhf.2	-	5	644	c.533C>A	c.(532-534)CCT>CAT	p.P178H	LECT1_uc001vhg.2_Missense_Mutation_p.P178H|LECT1_uc001vhh.2_Missense_Mutation_p.P167H	NM_007015	NP_008946	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1 isoform 1	178	BRICHOS.				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				ovary(2)	2		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		GTCCTTCACAGGCTGATCTAC	0.403			NA											41	88					9.62906e-15	1.26219e-14	0.00623	1	0
SMOC1	64093	broad.mit.edu	37	14	70418906	70418906	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr14:70418906C>T	uc001xls.1	+	2	404	c.151C>T	c.(151-153)CAA>TAA	p.Q51*	SMOC1_uc001xlt.1_Nonsense_Mutation_p.Q51*	NM_022137	NP_071420	Q9H4F8	SMOC1_HUMAN	secreted modular calcium-binding protein 1	51	Kazal-like.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			upper_aerodigestive_tract(1)|pancreas(1)	2				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CTCCAGGACTCAACCCAAACC	0.527			NA											44	74					0	0	0.002522	0	0
C14orf115	55237	broad.mit.edu	37	14	74824076	74824076	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr14:74824076A>T	uc001xpw.3	+	2	781	c.590A>T	c.(589-591)AAG>ATG	p.K197M		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	197					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		CGCAACCTCAAGATCCGGCCC	0.622			NA											33	58					0	0	0.002096	0	0
GALC	2581	broad.mit.edu	37	14	88417089	88417089	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr14:88417089G>A	uc001xvt.2	-	11	1564	c.1165C>T	c.(1165-1167)CAT>TAT	p.H389Y	GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Missense_Mutation_p.H363Y|GALC_uc010tvy.1_Missense_Mutation_p.H366Y|GALC_uc010tvz.1_Missense_Mutation_p.H333Y	NM_000153	NP_000144	P54803	GALC_HUMAN	galactosylceramidase isoform a precursor	389					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity				0						GAATGTTTATGACTCTGAAAA	0.313			NA											13	23					0	0	0.001368	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408344	105408344	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr14:105408344T>A	uc010axc.1	-	7	13564	c.13444A>T	c.(13444-13446)ATC>TTC	p.I4482F	AHNAK2_uc001ypx.2_Missense_Mutation_p.I4382F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4482						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGACCTCGATGGACTTGCCT	0.562			NA											109	193					0	0	0.00361	0	0
MNS1	55329	broad.mit.edu	37	15	56726471	56726471	+	Silent	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr15:56726471A>T	uc002adr.2	-	8	1299	c.1134T>A	c.(1132-1134)ACT>ACA	p.T378T	MNS1_uc010bfo.2_Silent_p.T246T|TEX9_uc002adp.2_Intron|TEX9_uc010ugl.1_Intron	NM_018365	NP_060835	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	378	Potential.				meiosis					ovary(1)	1				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		TAGCTAGCATAGTTTTTCTAA	0.383			NA											48	89					0	0	0.00361	0	0
MAN2C1	4123	broad.mit.edu	37	15	75655060	75655060	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr15:75655060T>A	uc002baf.2	-	7	837	c.820A>T	c.(820-822)AGG>TGG	p.R274W	MAN2C1_uc002bag.2_Missense_Mutation_p.R274W|MAN2C1_uc002bah.2_Missense_Mutation_p.R274W|MAN2C1_uc010bkk.2_Intron|MAN2C1_uc010umi.1_Missense_Mutation_p.R56W|MAN2C1_uc010umj.1_RNA	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	274					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0						GCACATTTCCTCACAGTCTCT	0.617			NA											11	25					0	0	0.001368	0	0
Unknown	0	broad.mit.edu	37	15	76074431	76074431	+	Missense_Mutation	SNP	C	C	T	rs149323153	by1000genomes	TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr15:76074431C>T	uc010umm.1	+	8	610	c.533C>T	c.(532-534)TCG>TTG	p.S178L	uc002bba.1_5'Flank					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;												NA						CTCCAGTCCTCGAGCTGCAGA	0.547			NA											8	43					0	0	0.008291	0	0
AKAP13	11214	broad.mit.edu	37	15	86262350	86262350	+	Silent	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr15:86262350C>T	uc002blv.1	+	23	6215	c.6045C>T	c.(6043-6045)ATC>ATT	p.I2015I	AKAP13_uc002blu.1_Silent_p.I2019I|AKAP13_uc010bnf.1_Silent_p.I636I|AKAP13_uc002blw.1_Silent_p.I480I|AKAP13_uc002blx.1_Silent_p.I260I	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2015	Interaction with ESR1.|DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						CTCTCAAGATCATGAGTGGTG	0.463	Melanoma(94;603 1453 3280 32295 32951)		NA											18	67					0	0	0.006122	0	0
AP3S2	10239	broad.mit.edu	37	15	90378752	90378752	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr15:90378752C>T	uc002boq.3	-	6	1013	c.577G>A	c.(577-579)GTC>ATC	p.V193I	AP3S2_uc002bos.3_Missense_Mutation_p.V394I|AP3S2_uc010bns.2_RNA|AP3S2_uc002bor.3_RNA|AP3S2_uc010bnt.2_RNA	NM_005829	NP_005820	P59780	AP3S2_HUMAN	adaptor-related protein complex 3, sigma 2	193					intracellular protein transport|vesicle-mediated transport	cytoplasmic vesicle membrane|Golgi apparatus|membrane coat	protein transporter activity				0	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			GATCCTCAGACAAACTGGGAC	0.468			NA											64	129					0	0	0.00361	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100636675	100636675	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr15:100636675C>T	uc002bvv.1	-	15	2102	c.2023G>A	c.(2023-2025)GGC>AGC	p.G675S	ADAMTS17_uc002bvx.1_Missense_Mutation_p.G432S	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	675	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CCGTCACAGCCGATTTTCTAA	0.542			NA											52	106					0	0	0.00361	0	0
NFATC2IP	84901	broad.mit.edu	37	16	28970370	28970370	+	Silent	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr16:28970370C>A	uc002dru.2	+	7	1065	c.1050C>A	c.(1048-1050)CTC>CTA	p.L350L	uc010vct.1_Intron|NFATC2IP_uc002drt.2_Silent_p.L71L|NFATC2IP_uc002drv.2_Silent_p.L69L|NFATC2IP_uc010vdh.1_Silent_p.L58L	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells,	350	Ubiquitin-like.					cytoplasm|nucleus				ovary(1)	1						AGCTCCAGCTCCGGGTGCAGG	0.587			NA											21	34					1.22574e-08	1.44996e-08	0.002299	1	0
TGFB1I1	7041	broad.mit.edu	37	16	31485720	31485720	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr16:31485720A>G	uc002ecd.1	+	6	489	c.463A>G	c.(463-465)ACT>GCT	p.T155A	TGFB1I1_uc002ece.1_Missense_Mutation_p.T138A|TGFB1I1_uc010caq.1_5'UTR	NM_001042454	NP_001035919	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced	155	Transcription activation (By similarity).|Interaction with PTK2B.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding				0						CACCTCAGCCACTCTGGAGCT	0.582			NA											28	42					0	0	0.007291	0	0
CALB2	794	broad.mit.edu	37	16	71411645	71411645	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr16:71411645A>G	uc002faa.3	+	4	407	c.337A>G	c.(337-339)ATG>GTG	p.M113V	CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_Missense_Mutation_p.M113V	NM_001740	NP_001731	P22676	CALB2_HUMAN	calbindin 2 isoform 1	113	EF-hand 3.						calcium ion binding				0		Ovarian(137;0.125)				CGCCGAGTTTATGGAGGTGAG	0.582			NA											18	26					0	0	0.006122	0	0
USP6	9098	broad.mit.edu	37	17	5048007	5048007	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:5048007C>T	uc002gau.1	+	26	4071	c.1841C>T	c.(1840-1842)CCC>CTC	p.P614L	USP6_uc002gav.1_Missense_Mutation_p.P614L|USP6_uc010ckz.1_Missense_Mutation_p.P297L	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	614					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						AAATATGCTCCCAAGTTTGAT	0.388			NA	T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								48	74					0	0	0.00361	0	0
GLP2R	9340	broad.mit.edu	37	17	9774129	9774129	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:9774129G>C	uc002gmd.1	+	10	1122	c.1122G>C	c.(1120-1122)ATG>ATC	p.M374I		NM_004246	NP_004237	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor precursor	374	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				lung(2)|ovary(1)	3					Glucagon recombinant(DB00040)	CTCATCAAATGTGCTTCAGAG	0.413			NA											64	106					0	0	0.00361	0	0
NCOR1	9611	broad.mit.edu	37	17	15950288	15950288	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:15950288G>C	uc002gpo.2	-	42	6896	c.6656C>G	c.(6655-6657)TCT>TGT	p.S2219C	NCOR1_uc002gpn.2_Missense_Mutation_p.S2116C|NCOR1_uc002gpl.2_Missense_Mutation_p.S234C|NCOR1_uc002gpm.2_Missense_Mutation_p.S739C|NCOR1_uc010vwb.1_Missense_Mutation_p.S803C|NCOR1_uc010coy.2_Missense_Mutation_p.S1127C|NCOR1_uc010vwc.1_Missense_Mutation_p.S1029C	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	2219	Interaction with C1D (By similarity).|ID2 (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACCTCCACCAGAGGAGTTCAA	0.398			NA											6	91					0	0	0.001168	0	0
FLCN	201163	broad.mit.edu	37	17	17119768	17119768	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:17119768T>A	uc002gra.3	-	11	1730	c.1226A>T	c.(1225-1227)TAC>TTC	p.Y409F	PLD6_uc010cpn.2_RNA	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	folliculin isoform 1	409					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						GGCCTCCTCGTACTGGCTGCT	0.667			NA							Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer				10	18					0	0	0.006214	0	0
SEZ6	124925	broad.mit.edu	37	17	27287897	27287897	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:27287897C>A	uc002hdp.2	-	6	1529	c.1335G>T	c.(1333-1335)TGG>TGT	p.W445C	SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.W445C|SEZ6_uc002hdq.1_Missense_Mutation_p.W320C	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	seizure related 6 homolog isoform 1	445	Extracellular (Potential).|CUB 1.					integral to membrane|plasma membrane				large_intestine(1)|central_nervous_system(1)	2	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CCTCAAGCAGCCAGTGACAGG	0.602			NA											44	125					5.34276e-22	7.45679e-22	0.00361	1	0
TMEM132E	124842	broad.mit.edu	37	17	32957120	32957120	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:32957120G>T	uc002hif.2	+	6	1490	c.1162G>T	c.(1162-1164)GAC>TAC	p.D388Y		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	388	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCTCGTCCTGGACATCTCCGC	0.582			NA											6	38					8.12818e-05	8.90886e-05	0.001984	1	0
CASC3	22794	broad.mit.edu	37	17	38319155	38319155	+	Splice_Site	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:38319155G>T	uc010cwt.1	+	6	1080	c.785_splice	c.e6+1	p.R262_splice	CASC3_uc010cws.1_Splice_Site_p.R262_splice|CASC3_uc002hue.2_Splice_Site_p.R262_splice	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51						mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						GGAAACCCCGGTGAGGACATT	0.348			NA											25	38					4.72057e-08	5.48378e-08	0.003954	1	0
C17orf53	78995	broad.mit.edu	37	17	42230076	42230076	+	Silent	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:42230076G>T	uc002ifi.1	+	5	1565	c.1380G>T	c.(1378-1380)ACG>ACT	p.T460T	C17orf53_uc010czq.1_Silent_p.T460T|C17orf53_uc002ifj.1_Intron|C17orf53_uc002ifk.1_Intron	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	hypothetical protein LOC78995	460											0		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TGAAATCCACGCTAGGCCTGG	0.562			NA											40	54					4.01765e-15	5.30221e-15	0.009718	1	0
MMD	23531	broad.mit.edu	37	17	53485141	53485141	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:53485141T>A	uc002iui.2	-	4	595	c.310A>T	c.(310-312)ATC>TTC	p.I104F		NM_012329	NP_036461	Q15546	PAQRB_HUMAN	monocyte to macrophage	104	Helical; (Potential).				cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity				0						AAGAAATAGATAACCATTCTA	0.383			NA											20	33					0	0	0.005443	0	0
VEZF1	7716	broad.mit.edu	37	17	56060517	56060517	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:56060517G>A	uc002ivf.1	-	2	414	c.271C>T	c.(271-273)CGC>TGC	p.R91C	VEZF1_uc010dcn.1_5'UTR	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	zinc finger protein 161	91	C2H2-type 1.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2						GATTCGTGGCGCCTCAGGTGA	0.493			NA											10	109					0	0	0.006214	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74622818	74622818	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:74622818G>A	uc002jsh.2	-	5	1400	c.1226C>T	c.(1225-1227)TCC>TTC	p.S409F	ST6GALNAC1_uc002jsi.2_Missense_Mutation_p.S277F|ST6GALNAC1_uc002jsj.2_RNA	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	sialyltransferase 7A	409	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity				0						GCCGTAGAAGGATGTCCGAGT	0.527			NA											126	249					0	0	0.00361	0	0
EMILIN2	84034	broad.mit.edu	37	18	2847877	2847877	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr18:2847877C>A	uc002kln.2	+	2	364	c.205C>A	c.(205-207)CAG>AAG	p.Q69K		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor	69	EMI.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			skin(2)|ovary(1)	3				READ - Rectum adenocarcinoma(2;0.1)		GAGTTTTATTCAGGCTCAGTA	0.473			NA											16	37					3.32936e-07	3.77717e-07	0.006122	1	0
MYOM1	8736	broad.mit.edu	37	18	3089175	3089175	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr18:3089175G>T	uc002klp.2	-	29	4468	c.4134C>A	c.(4132-4134)TGC>TGA	p.C1378*	MYOM1_uc002klq.2_Nonsense_Mutation_p.C1282*	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	1378	Ig-like C2-type 4.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						CTCTTACCTTGCATTTCAATA	0.318			NA											9	24					0.00829132	0.00864793	0.008291	1	0
DSG2	1829	broad.mit.edu	37	18	29125825	29125825	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr18:29125825T>G	uc002kwu.3	+	15	2664	c.2476T>G	c.(2476-2478)TTA>GTA	p.L826V	uc002kwv.3_RNA	NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	826	Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGACCGCTTCTTAGATGATTT	0.383			NA											10	98					0	0	0.008291	0	0
LINGO3	645191	broad.mit.edu	37	19	2290056	2290056	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:2290056C>A	uc010dsx.1	-	2	1848	c.1720G>T	c.(1720-1722)GGG>TGG	p.G574W	SPPL2B_uc010dsw.1_Intron|uc002lvo.1_5'UTR	NM_001101391	NP_001094861	P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	574	Cytoplasmic (Potential).					integral to membrane					0						gcggccggcccATCCACCTTG	0.572			NA											4	4					0.000602214	0.000641921	0.000602	1	0
PNPLA6	10908	broad.mit.edu	37	19	7620649	7620649	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:7620649G>C	uc010xjq.1	+	26	3318	c.3123G>C	c.(3121-3123)AAG>AAC	p.K1041N	PNPLA6_uc002mgq.1_Missense_Mutation_p.K993N|PNPLA6_uc010xjp.1_Missense_Mutation_p.K966N|PNPLA6_uc002mgr.1_Missense_Mutation_p.K993N|PNPLA6_uc002mgs.2_Missense_Mutation_p.K1031N|PNPLA6_uc002mgt.1_RNA	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	1032	Patatin.|Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						AGTGGGCCAAGGTGTGTGTTG	0.652			NA											18	35					0	0	0.010504	0	0
PNPLA6	10908	broad.mit.edu	37	19	7622093	7622093	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:7622093C>T	uc010xjq.1	+	29	3545	c.3350C>T	c.(3349-3351)TCG>TTG	p.S1117L	PNPLA6_uc002mgq.1_Missense_Mutation_p.S1069L|PNPLA6_uc010xjp.1_Missense_Mutation_p.S1042L|PNPLA6_uc002mgr.1_Missense_Mutation_p.S1069L|PNPLA6_uc002mgs.2_Missense_Mutation_p.S1107L|PNPLA6_uc002mgt.1_RNA	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	1108	Patatin.|Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						ATGACGCTGTCGGGCTACCTG	0.672			NA											16	48					0	0	0.004007	0	0
ILF3	3609	broad.mit.edu	37	19	10782177	10782177	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:10782177A>T	uc002mpn.2	+	4	694	c.377A>T	c.(376-378)GAC>GTC	p.D126V	ILF3_uc002mpm.2_Missense_Mutation_p.D126V|ILF3_uc002mpl.2_Missense_Mutation_p.D126V|ILF3_uc002mpk.2_Missense_Mutation_p.D126V|ILF3_uc010xli.1_Intron|ILF3_uc002mpo.2_Missense_Mutation_p.D126V	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	126	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding			ovary(3)	3			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GCCCTCCTGGACAAGGTGGCC	0.622			NA											3	49					0	0	0.004672	0	0
LDLR	3949	broad.mit.edu	37	19	11238726	11238726	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:11238726G>T	uc002mqk.3	+	16	2522	c.2354G>T	c.(2353-2355)AGT>ATT	p.S785I	LDLR_uc010xlk.1_Missense_Mutation_p.S785I|LDLR_uc010xll.1_Missense_Mutation_p.S744I|LDLR_uc010xlm.1_Missense_Mutation_p.S638I|LDLR_uc010xln.1_Missense_Mutation_p.S607I|LDLR_uc010xlo.1_Missense_Mutation_p.S617I|LDLR_uc010dxu.2_5'UTR	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	785	Extracellular (Potential).				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	AAGAAGCCCAGTAGCGTGAGG	0.612	GBM(18;201 575 7820 21545)		NA											40	58					4.17593e-13	5.29498e-13	0.007835	1	0
MAST3	23031	broad.mit.edu	37	19	18255920	18255920	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:18255920G>T	uc002nhz.3	+	23	2833	c.2833G>T	c.(2833-2835)GGC>TGC	p.G945C		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	945							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						CCCCGTGTGTGGCAGCCTGCG	0.667			NA											59	82					6.3091e-27	9.06641e-27	0.00361	1	0
RYR1	6261	broad.mit.edu	37	19	38939306	38939306	+	Silent	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:38939306C>A	uc002oit.2	+	11	1105	c.975C>A	c.(973-975)GCC>GCA	p.A325A	RYR1_uc002oiu.2_Silent_p.A325A	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	325	MIR 4.|Cytoplasmic.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGGATGTGGCCCCCAAGCGGG	0.632			NA											7	85					0.00198382	0.00209163	0.001984	1	0
AXL	558	broad.mit.edu	37	19	41765648	41765648	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:41765648C>G	uc010ehj.2	+	20	2714	c.2524C>G	c.(2524-2526)CCC>GCC	p.P842A	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_5'Flank|HNRNPUL1_uc002oqa.3_5'Flank|AXL_uc010ehk.2_Missense_Mutation_p.P833A|HNRNPUL1_uc010ehl.1_5'Flank	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	842	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						AGGAGCTGACCCCCCAACCCA	0.602			NA											3	62					0	0	0.004672	0	0
VN1R4	317703	broad.mit.edu	37	19	53770687	53770687	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:53770687G>T	uc010ydu.1	-	1	232	c.232C>A	c.(232-234)CTT>ATT	p.L78I		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	78	Extracellular (Potential).				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.00294)		TTGCACCCAAGAGCATTGAGA	0.493			NA								HNSCC(26;0.072)			20	37					1.96292e-10	2.39501e-10	0.010504	1	0
CACNG7	59284	broad.mit.edu	37	19	54416105	54416105	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:54416105G>T	uc002qcr.1	+	1	35	c.20G>T	c.(19-21)CGC>CTC	p.R7L	CACNG7_uc010era.1_Missense_Mutation_p.R7L	NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	7					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(1)	1	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TGCAGCAGCCGCGCCCTGACC	0.632			NA											25	49					7.01153e-11	8.66393e-11	0.007291	1	0
LILRA6	79168	broad.mit.edu	37	19	54742891	54742891	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:54742891C>A	uc002qeu.1	-	8	1508	c.1384G>T	c.(1384-1386)GGG>TGG	p.G462W	LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Intron|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.G306W	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor,	462	Helical; (Potential).					integral to membrane	receptor activity			skin(2)	2	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AACAGAATCCCGAGGAACACC	0.577			NA											20	93					2.39556e-15	3.18315e-15	0.00278	1	0
NLRP5	126206	broad.mit.edu	37	19	56539033	56539033	+	Silent	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:56539033C>T	uc002qmj.2	+	7	1434	c.1434C>T	c.(1432-1434)TGC>TGT	p.C478C	NLRP5_uc002qmi.2_Silent_p.C459C	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	478	NACHT.					mitochondrion|nucleolus	ATP binding	p.C478C(1)		ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTCTCATCTGCGTGGCCCTGC	0.617			NA											9	25					0	0	0.006214	0	0
ZNF835	90485	broad.mit.edu	37	19	57184245	57184245	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:57184245A>T	uc010ygo.1	-	1	2	c.2T>A	c.(1-3)ATG>AAG	p.M1K	ZNF835_uc010ygn.1_5'Flank	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						AGAAAAAGACATCATTCTGGA	0.468			NA											13	24					0	0	0.001855	0	0
PEG3	5178	broad.mit.edu	37	19	57327218	57327218	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:57327218A>T	uc002qnu.2	-	7	2943	c.2592T>A	c.(2590-2592)TAT>TAA	p.Y864*	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Nonsense_Mutation_p.Y835*|PEG3_uc002qnv.2_Nonsense_Mutation_p.Y864*|PEG3_uc002qnw.2_Nonsense_Mutation_p.Y740*|PEG3_uc002qnx.2_Nonsense_Mutation_p.Y738*|PEG3_uc010etr.2_Nonsense_Mutation_p.Y864*	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	864					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGTCTGAGATATAAATGGAGG	0.428			NA											31	64					0	0	0.002836	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565111	58565111	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:58565111T>A	uc002qrc.1	+	6	1166	c.919T>A	c.(919-921)TTC>ATC	p.F307I		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	307	C2H2-type 1.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGTCACCCACTTCATCGAGCA	0.632			NA											24	56					0	0	0.00278	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58596165	58596165	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:58596165C>A	uc002qri.2	-	7	1729	c.1420G>T	c.(1420-1422)GCC>TCC	p.A474S	ZSCAN18_uc002qrj.3_Missense_Mutation_p.A473S|ZSCAN18_uc010yhs.1_Missense_Mutation_p.A338S|ZSCAN18_uc002qrh.2_Missense_Mutation_p.A474S|ZSCAN18_uc010yht.1_Missense_Mutation_p.A530S|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	474					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGGCCCCGGGCGCCCCCCAGC	0.716			NA											3	6					0.004672	0.00489929	0.004672	1	0
ZSCAN18	65982	broad.mit.edu	37	19	58596514	58596514	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:58596514C>A	uc002qri.2	-	7	1380	c.1071G>T	c.(1069-1071)CAG>CAT	p.Q357H	ZSCAN18_uc002qrj.3_Missense_Mutation_p.Q356H|ZSCAN18_uc010yhs.1_Missense_Mutation_p.Q221H|ZSCAN18_uc002qrh.2_Missense_Mutation_p.Q357H|ZSCAN18_uc010yht.1_Missense_Mutation_p.Q413H|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	357					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCGGGGCAGGCTGCTGGATGA	0.701			NA											9	16					7.03913e-09	8.42957e-09	0.001368	1	0
KCNF1	3754	broad.mit.edu	37	2	11053919	11053919	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:11053919C>A	uc002rax.2	+	1	1857	c.1367C>A	c.(1366-1368)CCT>CAT	p.P456H		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	456	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCTCCAGAGCCTGCGGGGAAG	0.677			NA											13	24					3.27435e-08	3.84984e-08	0.00245	1	0
C2orf16	84226	broad.mit.edu	37	2	27802438	27802438	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:27802438C>T	uc002rkz.3	+	1	3050	c.2999C>T	c.(2998-3000)ACA>ATA	p.T1000I		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1000										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					ATAAAGAAGACAAACTCAACG	0.443			NA											21	55					0	0	0.001882	0	0
XDH	7498	broad.mit.edu	37	2	31621491	31621491	+	Silent	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:31621491C>A	uc002rnv.1	-	5	460	c.381G>T	c.(379-381)CTG>CTT	p.L127L		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	127					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GATTCCGGAGCAGTGTGTACA	0.547	Colon(66;682 1445 30109 40147)		NA											51	91					2.81731e-22	3.96056e-22	0.00361	1	0
FSHR	2492	broad.mit.edu	37	2	49217720	49217720	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:49217720A>T	uc002rww.2	-	5	505	c.431T>A	c.(430-432)CTC>CAC	p.L144H	FSHR_uc002rwx.2_Missense_Mutation_p.L144H|FSHR_uc010fbn.2_Missense_Mutation_p.L144H|FSHR_uc010fbo.1_RNA	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	144	LRR 5.|Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AACTTTTTGGAGAGAATGAAT	0.383			NA							Gonadal_Dysgenesis_46_XX				29	67					0	0	0.007291	0	0
SNRNP200	23020	broad.mit.edu	37	2	96949346	96949346	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:96949346G>A	uc002svu.2	-	33	4776	c.4690C>T	c.(4690-4692)CCG>TCG	p.P1564S	SNRNP200_uc002svt.2_Missense_Mutation_p.P174S|SNRNP200_uc010yuj.1_RNA|SNRNP200_uc002svv.1_Missense_Mutation_p.P91S	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1564	Helicase C-terminal 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						TTGCGAGACGGCACAAAGACA	0.582			NA											5	135					0	0	0.000602	0	0
SMPD4	55627	broad.mit.edu	37	2	130912768	130912768	+	Missense_Mutation	SNP	C	C	G	rs138491461		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:130912768C>G	uc002tqq.1	-	15	1991	c.1471G>C	c.(1471-1473)GCG>CCG	p.A491P	SMPD4_uc002tqo.1_5'UTR|SMPD4_uc002tqp.1_Missense_Mutation_p.A230P|SMPD4_uc010yzy.1_Missense_Mutation_p.A240P|SMPD4_uc010yzz.1_Missense_Mutation_p.A155P|SMPD4_uc002tqr.1_Missense_Mutation_p.A462P|SMPD4_uc002tqs.1_Missense_Mutation_p.A359P|SMPD4_uc002tqt.1_Missense_Mutation_p.A340P|SMPD4_uc010zaa.1_Missense_Mutation_p.A349P|SMPD4_uc010zab.1_Missense_Mutation_p.A389P|SMPD4_uc010zac.1_Missense_Mutation_p.A232P|SMPD4_uc010zad.1_Missense_Mutation_p.A127P	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4 isoform 2	452					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity				0	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GTGCGGAGCGCGCGGTTCAGA	0.602			NA											17	43					0	0	0.004007	0	0
THSD7B	80731	broad.mit.edu	37	2	138163263	138163263	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:138163263G>T	uc002tva.1	+	12	2488	c.2488G>T	c.(2488-2490)GTG>TTG	p.V830L	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.V720L	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCCTCTCCTTGTGCAAGAATG	0.493			NA											10	36					0.000442599	0.000474388	0.006214	1	0
CRYGC	1420	broad.mit.edu	37	2	208994322	208994322	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:208994322C>A	uc002vco.3	-	2	133	c.95G>T	c.(94-96)CGC>CTC	p.R32L		NM_020989	NP_066269	P07315	CRGC_HUMAN	crystallin, gamma C	32	Beta/gamma crystallin 'Greek key' 1.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens				0				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GGAGTTGCAGCGGCTGAAATA	0.582			NA											59	113					2.08403e-16	2.82728e-16	0.00361	1	0
DES	1674	broad.mit.edu	37	2	220285261	220285261	+	Silent	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:220285261G>A	uc002vll.2	+	4	866	c.780G>A	c.(778-780)CAG>CAA	p.Q260Q		NM_001927	NP_001918	P17661	DESM_HUMAN	desmin	260	Rod.|Linker 12.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			central_nervous_system(2)	2		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGCAGGTCCAGGTGGAGATGG	0.582			NA											20	23					0	0	0.008871	0	0
SIRPB1	10326	broad.mit.edu	37	20	1600516	1600516	+	Silent	SNP	T	T	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr20:1600516T>G	uc010gai.2	-	1	174	c.75A>C	c.(73-75)ACA>ACC	p.T25T	SIRPB1_uc002wfk.3_Silent_p.T25T|SIRPB1_uc002wfl.3_Silent_p.T25T	NM_006065	NP_006056	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1 isoform 1	25					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			ovary(1)	1						AGTGCTCACCTGTGAGTCTCC	0.567			NA											25	69					0	0	0.005443	0	0
EIF6	3692	broad.mit.edu	37	20	33867858	33867858	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr20:33867858G>A	uc002xbv.1	-	4	649	c.433C>T	c.(433-435)CAG>TAG	p.Q145*	EDEM2_uc010zuv.1_5'Flank|EIF6_uc002xbx.1_Nonsense_Mutation_p.Q145*|EIF6_uc002xbz.1_Nonsense_Mutation_p.Q126*|EIF6_uc002xby.1_RNA	NM_181468	NP_852133	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	145					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ACTAGCACCTGGTCGGCCACT	0.488			NA											220	85					0	0	0.00361	0	0
TCFL5	10732	broad.mit.edu	37	20	61488943	61488943	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr20:61488943G>A	uc002ydp.2	-	4	1135	c.1042C>T	c.(1042-1044)CGT>TGT	p.R348C	TCFL5_uc002ydo.2_Missense_Mutation_p.R121C|TCFL5_uc002ydq.2_Missense_Mutation_p.R347C	NM_006602	NP_006593	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 protein	348	R3 epitope (recognized by Chagas's antibodies).				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1	Breast(26;5.68e-08)					TCCAACTGACGCATTCTACTC	0.463			NA											40	278					0	0	0.007835	0	0
MYT1	4661	broad.mit.edu	37	20	62831276	62831276	+	Splice_Site	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr20:62831276G>T	uc002yii.2	+	4	450	c.86_splice	c.e4+1	p.S29_splice	MYT1_uc002yih.2_Splice_Site_p.S29_splice	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1						cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CAGACCTCAGGTAAGGAAGTC	0.483	GBM(59;481 1041 20555 21139 33705)		NA											39	478					7.66079e-34	1.16109e-33	0.002522	1	0
POTED	317754	broad.mit.edu	37	21	15013702	15013702	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr21:15013702C>A	uc002yjb.1	+	11	1622	c.1570C>A	c.(1570-1572)CGT>AGT	p.R524S		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	pote protein	524	Potential.					plasma membrane				ovary(3)|skin(3)	6						AGATCTCTTGCGTGAAAACAG	0.353			NA											14	15					1.5739e-10	1.93251e-10	0.004007	1	0
CLDN8	9073	broad.mit.edu	37	21	31587992	31587992	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr21:31587992C>A	uc002ynu.1	-	1	327	c.252G>T	c.(250-252)ATG>ATT	p.M84I		NM_199328	NP_955360	P56748	CLD8_HUMAN	claudin 8	84	Helical; (Potential).				calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity				0						AAGCAGCACACATCAGTCCTC	0.527			NA											31	53					1.21669e-08	1.44809e-08	0.003271	1	0
OR11H1	81061	broad.mit.edu	37	22	16449114	16449114	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr22:16449114C>A	uc011agd.1	-	1	691	c.691G>T	c.(691-693)GGA>TGA	p.G231*		NM_001005239	NP_001005239	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H,	231	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		GTATAGGATCCAATAATAAAG	0.428			NA											54	142					2.2129e-31	3.30233e-31	0.00361	1	0
SH3BP1	23616	broad.mit.edu	37	22	38046679	38046679	+	Silent	SNP	G	G	T	rs139958398	byFrequency	TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr22:38046679G>T	uc003ati.2	+	16	1656	c.1545G>T	c.(1543-1545)CCG>CCT	p.P515P	SH3BP1_uc003atg.1_RNA|SH3BP1_uc011anl.1_3'UTR|SH3BP1_uc003ath.1_Silent_p.P515P|SH3BP1_uc003atj.1_Silent_p.P451P|SH3BP1_uc003atk.1_Silent_p.P429P|uc003atl.1_RNA	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	515					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					ctccggctccggctccagctc	0.413			NA											22	29					2.52088e-20	3.49322e-20	0.00278	1	0
ATP2B2	491	broad.mit.edu	37	3	10443877	10443877	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr3:10443877G>A	uc003bvt.2	-	4	992	c.553C>T	c.(553-555)CGC>TGC	p.R185C	ATP2B2_uc003bvv.2_Missense_Mutation_p.R185C|ATP2B2_uc003bvw.2_Missense_Mutation_p.R185C|ATP2B2_uc010hdp.2_Missense_Mutation_p.R185C|ATP2B2_uc010hdo.2_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	185	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						TGCTCGATGCGGCTCTGCAGG	0.577	Ovarian(125;1619 1709 15675 19819 38835)		NA											7	228					0	0	0.004482	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059634	11059634	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr3:11059634T>A	uc010hdq.2	+	4	755	c.344T>A	c.(343-345)GTA>GAA	p.V115E		NM_003042	NP_003033	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter	115					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)|skin(1)	2		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GGGCTAGGGGTATGGAAGCTG	0.597			NA											42	94					0	0	0.002852	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33870389	33870389	+	Silent	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr3:33870389C>T	uc003cfx.2	+	7	917	c.762C>T	c.(760-762)GCC>GCT	p.A254A	PDCD6IP_uc003cfy.2_Silent_p.A259A|PDCD6IP_uc011axw.1_Silent_p.A35A	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	254	Interaction with EIAV p9.|Interaction with CHMP4A, CHMP4B and CHMP4C.|BRO1.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			ovary(1)|skin(1)	2						TCATGCAGGCCAATGCTGAGT	0.438			NA											36	76					0	0	0.002836	0	0
SCN5A	6331	broad.mit.edu	37	3	38616901	38616901	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr3:38616901G>T	uc003cio.2	-	20	3747	c.3553C>A	c.(3553-3555)CAG>AAG	p.Q1185K	SCN5A_uc003cin.2_Missense_Mutation_p.Q1184K|SCN5A_uc003cil.3_Missense_Mutation_p.Q1185K|SCN5A_uc010hhi.2_Missense_Mutation_p.Q1185K|SCN5A_uc010hhk.2_Missense_Mutation_p.Q1184K|SCN5A_uc011ayr.1_Missense_Mutation_p.Q1131K|SCN5A_uc010hhj.1_Missense_Mutation_p.Q795K	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1185					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCTGGGGCCTGTGTGGTGTCC	0.592			NA											9	9					7.48243e-07	8.43948e-07	0.006214	1	0
KBTBD8	84541	broad.mit.edu	37	3	67058585	67058585	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr3:67058585G>T	uc003dmy.2	+	4	1635	c.1582G>T	c.(1582-1584)GTA>TTA	p.V528L	KBTBD8_uc011bfv.1_Missense_Mutation_p.V86L	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	T-cell activation kelch repeat protein	528	Kelch 4.									ovary(2)|large_intestine(1)|breast(1)	4		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CCTTAAACTGGTACTTTTCCA	0.363			NA											47	60					2.64894e-19	3.64464e-19	0.00361	1	0
VGLL3	389136	broad.mit.edu	37	3	87017927	87017927	+	Silent	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr3:87017927A>T	uc003dqn.2	-	3	1114	c.750T>A	c.(748-750)CCT>CCA	p.P250P		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGAGCCAGCAGGAGggtggt	0.468			NA											21	32					0	0	0.010504	0	0
EVC	2121	broad.mit.edu	37	4	5800495	5800495	+	Silent	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr4:5800495G>T	uc003gil.1	+	15	2464	c.2280G>T	c.(2278-2280)CGG>CGT	p.R760R	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	760					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				CCAAGAGCCGGGCCAAGGACA	0.577			NA											5	15					0.00198382	0.00209163	0.001984	1	0
NSUN7	79730	broad.mit.edu	37	4	40810420	40810420	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr4:40810420C>T	uc003gvj.3	+	12	2116	c.1621C>T	c.(1621-1623)CGG>TGG	p.R541W	NSUN7_uc003gvi.3_3'UTR	NM_024677	NP_078953			NOL1/NOP2/Sun domain family, member 7												0						ATCATCAAAACGGGAGAAGAA	0.448			NA											3	43					0	0	0.009096	0	0
GABRG1	2565	broad.mit.edu	37	4	46099217	46099217	+	Splice_Site	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr4:46099217C>T	uc003gxb.2	-	2	405	c.253_splice	c.e2+1	p.V85_splice		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1						gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CTCAAGCTTACCTCCTATATC	0.353			NA											27	46					0	0	0.005443	0	0
ASB5	140458	broad.mit.edu	37	4	177143562	177143562	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr4:177143562C>G	uc003iuq.1	-	3	302	c.286G>C	c.(286-288)GTA>CTA	p.V96L	ASB5_uc003iup.1_Missense_Mutation_p.V43L	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box-containing protein	96	ANK 1.				intracellular signal transduction					skin(2)	2		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ACTGCATTTACATTATAACCC	0.398			NA											23	32					0	0	0.00333	0	0
SLC45A2	51151	broad.mit.edu	37	5	33984440	33984440	+	Silent	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:33984440C>A	uc003jid.2	-	1	341	c.249G>T	c.(247-249)CTG>CTT	p.L83L	SLC45A2_uc003jie.2_Silent_p.L83L|SLC45A2_uc003jif.3_Silent_p.L83L|SLC45A2_uc011coe.1_Silent_p.L83L	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	83	Helical; Name=2; (Potential).				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						CGGGCTGCAGCAGGAATCCCA	0.652	Ovarian(31;380 859 8490 22203 49048)		NA											11	26					5.16669e-11	6.42524e-11	0.000978	1	0
PLK2	10769	broad.mit.edu	37	5	57751897	57751897	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:57751897A>T	uc003jrn.2	-	10	1467	c.1340T>A	c.(1339-1341)ATG>AAG	p.M447K		NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	447					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|lung(1)|skin(1)	4		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TCTGACTATCATCCGAATAGC	0.468			NA											29	50					0	0	0.002096	0	0
CMYA5	202333	broad.mit.edu	37	5	79026416	79026416	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:79026416G>T	uc003kgc.2	+	2	1900	c.1828G>T	c.(1828-1830)GAG>TAG	p.E610*		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	610	Glu-rich.					perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGAATTACAGGAGCAAGAAGG	0.418			NA											73	121					1.1794e-34	1.80161e-34	0.00361	1	0
VCAN	1462	broad.mit.edu	37	5	82836167	82836167	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:82836167C>A	uc003kii.3	+	8	7701	c.7345C>A	c.(7345-7347)CAG>AAG	p.Q2449K	VCAN_uc003kij.3_Missense_Mutation_p.Q1462K|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.Q1113K	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2449	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGCAACTACTCAGGCAACCAG	0.438			NA											54	107					2.5401e-28	3.7051e-28	0.00361	1	0
HAPLN1	1404	broad.mit.edu	37	5	82948298	82948298	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:82948298G>A	uc003kim.2	-	2	517	c.446C>T	c.(445-447)ACT>ATT	p.T149I	HAPLN1_uc003kin.2_Missense_Mutation_p.T149I	NM_001884	NP_001875	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	149	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			large_intestine(3)|ovary(1)|skin(1)	5		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		TACCACAACAGTATCATCTTC	0.378			NA											51	107					0	0	0.00361	0	0
YTHDC2	64848	broad.mit.edu	37	5	112926863	112926863	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:112926863A>T	uc003kqn.2	+	27	4134	c.3951A>T	c.(3949-3951)GAA>GAT	p.E1317D		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1317	YTH.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(2)|central_nervous_system(1)	3		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CTAGTAATGAACGGAAGCTAA	0.403			NA											69	130					0	0	0.00361	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237734	140237734	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:140237734G>T	uc003lhx.2	+	1	2101	c.2101G>T	c.(2101-2103)GCC>TCC	p.A701S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.A701S	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	701	Helical; (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGATCATCGCCATCTGCGC	0.677			NA											17	68					2.35188e-11	2.94365e-11	0.006122	1	0
PCDHGA4	56111	broad.mit.edu	37	5	140736604	140736604	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:140736604G>T	uc003ljq.1	+	1	1837	c.1837G>T	c.(1837-1839)GAG>TAG	p.E613*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Nonsense_Mutation_p.E613*	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	613	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGTCCAGCGAGCCGGGACT	0.622			NA											35	66					2.20474e-14	2.85146e-14	0.003755	1	0
ARAP3	64411	broad.mit.edu	37	5	141051832	141051832	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:141051832C>A	uc003llm.2	-	10	1500	c.1422G>T	c.(1420-1422)TGG>TGT	p.W474C	ARAP3_uc011dbe.1_Missense_Mutation_p.W136C|ARAP3_uc003lln.2_Missense_Mutation_p.W396C|ARAP3_uc003llo.1_Missense_Mutation_p.W474C	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	474	PH 2.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			breast(5)|ovary(1)|large_intestine(1)	7						GAGCGGCCGCCCAGCTCTGCC	0.632			NA											37	77					2.04263e-09	2.46131e-09	0.004289	1	0
HTR4	3360	broad.mit.edu	37	5	147830764	147830764	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:147830764A>T	uc003lpj.1	-	7	1312	c.1148T>A	c.(1147-1149)CTG>CAG	p.L383Q	HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_3'UTR	NM_001040169	NP_001035259	Q13639	5HT4R_HUMAN	serotonin 5-HT4 receptor isoform a	Error:Variant_position_missing_in_Q13639_after_alignment					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GCATGATTCCAGGGATTCTGG	0.473	GBM(120;370 1604 14007 17804 41573)		NA											55	138					0	0	0.00361	0	0
SFXN1	94081	broad.mit.edu	37	5	174938509	174938509	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:174938509G>T	uc003mda.2	+	5	628	c.490G>T	c.(490-492)GGA>TGA	p.G164*	SFXN1_uc003mdb.1_Nonsense_Mutation_p.G103*	NM_022754	NP_073591	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	164	Helical; (Potential).				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			ovary(1)	1	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AACAGCTCTAGGACTCAATGC	0.413			NA											69	146					3.82405e-32	5.7509e-32	0.00361	1	0
VARS	7407	broad.mit.edu	37	6	31760560	31760560	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr6:31760560C>A	uc003nxe.2	-	4	1058	c.635G>T	c.(634-636)GGA>GTA	p.G212V	VARS_uc011doi.1_RNA	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	212	GST C-terminal.				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	AGGCCTGGCTCCTGAGTATAG	0.562			NA											27	50					9.04412e-07	1.0142e-06	0.004656	1	0
ATF6B	1388	broad.mit.edu	37	6	32089112	32089112	+	Silent	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr6:32089112C>T	uc003nzn.2	-	6	525	c.492G>A	c.(490-492)AAG>AAA	p.K164K	ATF6B_uc003nzo.2_Silent_p.K161K|ATF6B_uc003nzp.1_5'Flank|ATF6B_uc011dpg.1_Silent_p.K98K|ATF6B_uc011dph.1_Silent_p.K164K	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta isoform	164	Cytoplasmic (Potential).				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CAGGTTCTATCTTGGTCTGGA	0.488			NA											10	22					0	0	0.008291	0	0
ITPR3	3710	broad.mit.edu	37	6	33608316	33608316	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr6:33608316C>T	uc011drk.1	+	2	364	c.145C>T	c.(145-147)CCT>TCT	p.P49S		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	49	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						GGACAACCCCCCTAAGAAGTT	0.612			NA											59	136					0	0	0.00361	0	0
PNPLA1	285848	broad.mit.edu	37	6	36269663	36269663	+	Silent	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr6:36269663C>T	uc010jwf.2	+	6	801	c.801C>T	c.(799-801)TCC>TCT	p.S267S	PNPLA1_uc003olw.1_Silent_p.S172S|PNPLA1_uc010jwe.1_Silent_p.S181S	NM_001145717	NP_001139189	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	267					lipid catabolic process		hydrolase activity			large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4						ATTCTTCCTCCAAGAGAGTGA	0.498			NA									OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	58					0	0	0.002299	0	0
PHF3	23469	broad.mit.edu	37	6	64422791	64422791	+	Silent	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr6:64422791C>T	uc003pep.1	+	15	5333	c.5307C>T	c.(5305-5307)AAC>AAT	p.N1769N	PHF3_uc003pen.2_Silent_p.N1681N|PHF3_uc011dxs.1_Silent_p.N1038N	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1769					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGTTGGAAACACATGTCCAT	0.423	GBM(135;136 1820 29512 34071 46235)		NA											33	68					0	0	0.002836	0	0
HTR1E	3354	broad.mit.edu	37	6	87725613	87725613	+	Silent	SNP	G	G	A	rs146708836		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr6:87725613G>A	uc003pli.2	+	2	1264	c.561G>A	c.(559-561)ACG>ACA	p.T187T		NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	187	Helical; Name=5; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			ovary(2)|skin(1)	3		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TTTACTCCACGCTGGGTGCGT	0.532			NA											16	46					0	0	0.003163	0	0
SERINC1	57515	broad.mit.edu	37	6	122792857	122792857	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr6:122792857G>A	uc003pyy.1	-	1	96	c.26C>T	c.(25-27)TCC>TTC	p.S9F	PKIB_uc003pyz.2_5'Flank	NM_020755	NP_065806	Q9NRX5	SERC1_HUMAN	serine incorporator 1	9	Cytoplasmic (Potential).				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.126)		GCTCGCCATGGAGCACAGCCC	0.587			NA											36	63					0	0	0.003755	0	0
HEATR2	54919	broad.mit.edu	37	7	803547	803547	+	Silent	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:803547G>T	uc010krz.1	+	8	1739	c.1719G>T	c.(1717-1719)TCG>TCT	p.S573S	HEATR2_uc003siz.2_Silent_p.S441S|HEATR2_uc003sja.2_Silent_p.S31S	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	573							protein binding			skin(1)	1		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TGACCGCGTCGCACCTTGACT	0.652			NA											32	101					2.23313e-29	3.30707e-29	0.002445	1	0
TTYH3	80727	broad.mit.edu	37	7	2686562	2686562	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:2686562T>A	uc003smp.2	+	2	386	c.199T>A	c.(199-201)TGG>AGG	p.W67R	TTYH3_uc010ksn.2_5'Flank|TTYH3_uc003smq.2_5'Flank	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	tweety 3	67	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CTACTCCTTCTGGCTGTGCTG	0.682			NA											6	18					0	0	0.001168	0	0
GLI3	2737	broad.mit.edu	37	7	42005278	42005278	+	Silent	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:42005278C>A	uc011kbh.1	-	15	3484	c.3393G>T	c.(3391-3393)GCG>GCT	p.A1131A	GLI3_uc011kbg.1_Silent_p.A1072A	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1131					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GCAGCCCGGGCGCGTCAAAGT	0.637			NA							Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				54	112					1.27862e-28	1.87918e-28	0.00361	1	0
STYXL1	51657	broad.mit.edu	37	7	75659763	75659763	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:75659763C>T	uc003uej.3	-	2	252	c.79G>A	c.(79-81)GAC>AAC	p.D27N	STYXL1_uc011kgf.1_5'Flank|STYXL1_uc011kgg.1_5'Flank|STYXL1_uc003ueh.2_5'Flank|STYXL1_uc003uek.3_Missense_Mutation_p.D27N|STYXL1_uc003uel.2_Missense_Mutation_p.D27N|STYXL1_uc003uem.2_Missense_Mutation_p.D27N|STYXL1_uc010ldg.1_RNA|STYXL1_uc010ldh.1_Missense_Mutation_p.D27N|STYXL1_uc003uen.1_Missense_Mutation_p.D27N	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	map kinase phosphatase-like protein MK-STYX	27	Rhodanese.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity				0						TAGTTGGGGTCTGTTAATCTG	0.398			NA											14	47					0	0	0.004007	0	0
CACNA2D1	781	broad.mit.edu	37	7	81612643	81612643	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:81612643C>G	uc003uhr.1	-	23	2137	c.1881G>C	c.(1879-1881)AAG>AAC	p.K627N		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TCATTTTGCCCTTTTTTGCTG	0.338			NA											6	19					0	0	0.001168	0	0
ABCB1	5243	broad.mit.edu	37	7	87214992	87214992	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:87214992C>A	uc003uiz.1	-	5	540	c.122G>T	c.(121-123)CGC>CTC	p.R41L	ABCB1_uc011khc.1_Missense_Mutation_p.R41L	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	41	Cytoplasmic (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ATTTGAATAGCGAAACTAAAA	0.328			NA											15	40					6.31663e-08	7.25104e-08	0.003163	1	0
PEX1	5189	broad.mit.edu	37	7	92147523	92147523	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:92147523C>A	uc003uly.2	-	4	500	c.404G>T	c.(403-405)CGA>CTA	p.R135L	PEX1_uc011khr.1_5'UTR|PEX1_uc010ley.2_Missense_Mutation_p.R135L|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_5'Flank	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	135					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AAAAACTATTCGAATTTGATC	0.348			NA											28	47					1.22384e-17	1.672e-17	0.002836	1	0
EPO	2056	broad.mit.edu	37	7	100320640	100320640	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:100320640C>T	uc003uwi.2	+	5	647	c.466C>T	c.(466-468)CCA>TCA	p.P156S	EPO_uc011kkc.1_Missense_Mutation_p.P155S	NM_000799	NP_000790	P01588	EPO_HUMAN	erythropoietin precursor	156					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	CTCAGCTGCTCCACTCCGAAC	0.557			NA											70	134					0	0	0.00361	0	0
C7orf60	154743	broad.mit.edu	37	7	112579784	112579784	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:112579784G>C	uc003vgo.1	-	1	149	c.22C>G	c.(22-24)CGA>GGA	p.R8G	C7orf60_uc011kms.1_Missense_Mutation_p.R8G	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	hypothetical protein LOC154743	8										ovary(2)|skin(1)	3						GCAGTATTTCGGCCGCCGGCC	0.602			NA											18	22					0	0	0.00499	0	0
BRAF	673	broad.mit.edu	37	7	140481411	140481411	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:140481411C>A	uc003vwc.3	-	11	1458	c.1397G>T	c.(1396-1398)GGA>GTA	p.G466V		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	466	ATP (By similarity).|Protein kinase.		G -> V (in LNCR).|G -> A (in melanoma).|G -> E (in melanoma).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G466V(12)|p.G466E(5)|p.G466A(3)|p.G466R(2)	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCCAAATGATCCAGATCCAAT	0.378	Colon(40;35 892 2973 5743 27438)	G466V(NCIH1666_LUNG)|G466V(CAL12T_LUNG)	61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				40	74					5.85753e-14	7.52557e-14	0.00361	1	0
TMEM66	51669	broad.mit.edu	37	8	29931542	29931542	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr8:29931542G>C	uc003xhs.2	-	2	317	c.133C>G	c.(133-135)CTT>GTT	p.L45V	TMEM66_uc003xht.2_Missense_Mutation_p.L45V|TMEM66_uc003xhu.2_Missense_Mutation_p.L9V|TMEM66_uc003xhv.2_Intron	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN	transmembrane protein 66 precursor	45						integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		TGGAGGGTAAGAGCTTTTACA	0.473			NA											35	69					0	0	0.004289	0	0
CSMD3	114788	broad.mit.edu	37	8	113988167	113988167	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr8:113988167C>A	uc003ynu.2	-	7	1400	c.1241G>T	c.(1240-1242)GGG>GTG	p.G414V	CSMD3_uc003ynt.2_Missense_Mutation_p.G374V|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	414	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AGGAGAGAGCCCGTCCTTGGA	0.473			NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			61	94					4.88506e-25	6.96839e-25	0.00361	1	0
EXT1	2131	broad.mit.edu	37	8	119122794	119122794	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr8:119122794G>C	uc003yok.1	-	1	1265	c.492C>G	c.(490-492)GAC>GAG	p.D164E		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	164	Lumenal (Potential).		D -> H (in EXT1; loss of activity).	Missing: Abolishes heparan-sulfate biosynthesis.|D->E: Abolishes heparan-sulfate biosynthesis.	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GTGACAACTGGTCTCTGTCTA	0.463			NA	Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				66	112					0	0	0.00361	0	0
KCNQ3	3786	broad.mit.edu	37	8	133196573	133196573	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr8:133196573C>G	uc003ytj.2	-	3	744	c.519G>C	c.(517-519)TTG>TTC	p.L173F	KCNQ3_uc010mdt.2_Missense_Mutation_p.L173F	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	173	Helical; Name=Segment S2; (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCCAGATCCTCAAAGCAAACT	0.532			NA											48	79					0	0	0.00361	0	0
DMRT1	1761	broad.mit.edu	37	9	894137	894137	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr9:894137A>T	uc003zgv.2	+	3	913	c.764A>T	c.(763-765)AAC>ATC	p.N255I	DMRT1_uc003zgu.1_Missense_Mutation_p.N255I	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor	255					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		CCTGTGAAGAACAGCCTTCGG	0.532			NA									OREG0019071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	62					0	0	0.004656	0	0
PTPRD	5789	broad.mit.edu	37	9	8389318	8389318	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr9:8389318C>A	uc003zkk.2	-	36	5011	c.4300G>T	c.(4300-4302)GAA>TAA	p.E1434*	PTPRD_uc003zkp.2_Nonsense_Mutation_p.E1028*|PTPRD_uc003zkq.2_Nonsense_Mutation_p.E1027*|PTPRD_uc003zkr.2_Nonsense_Mutation_p.E1018*|PTPRD_uc003zks.2_Nonsense_Mutation_p.E1027*|PTPRD_uc003zkl.2_Nonsense_Mutation_p.E1425*|PTPRD_uc003zkm.2_Nonsense_Mutation_p.E1421*|PTPRD_uc003zkn.2_Nonsense_Mutation_p.E1023*|PTPRD_uc003zko.2_Nonsense_Mutation_p.E1024*	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1434	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCAAATGTTTCGGGGAGAGAT	0.418			NA								TSP Lung(15;0.13)			46	113					6.17242e-35	9.50356e-35	0.00361	1	0
CTSL2	1515	broad.mit.edu	37	9	99798884	99798884	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr9:99798884C>A	uc004awt.2	-	5	739	c.542G>T	c.(541-543)GGC>GTC	p.G181V	CTSL2_uc010msi.2_Missense_Mutation_p.G181V|CTSL2_uc004awu.2_Missense_Mutation_p.G126V|CTSL2_uc010msj.1_Missense_Mutation_p.G126V|CTSL2_uc010msk.2_Missense_Mutation_p.G126V	NM_001333	NP_001324	O60911	CATL2_HUMAN	cathepsin L2 preproprotein	181						lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(62;0.0559)				AGCCATGAAGCCACCATTGCA	0.512			NA											26	50					1.85244e-09	2.24608e-09	0.00333	1	0
SPTAN1	6709	broad.mit.edu	37	9	131371243	131371243	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr9:131371243G>A	uc004bvl.3	+	35	4695	c.4582G>A	c.(4582-4584)GAG>AAG	p.E1528K	SPTAN1_uc004bvm.3_Missense_Mutation_p.E1528K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1508K	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1528	Spectrin 16.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						CCGGCGCAATGAGGTCTTGGA	0.572	NSCLC(120;833 1744 2558 35612 37579)		NA											20	158					0	0	0.008871	0	0
ZMYND19	116225	broad.mit.edu	37	9	140476996	140476996	+	Nonstop_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr9:140476996C>A	uc004cno.1	-	6	905	c.683G>T	c.(682-684)TGA>TTA	p.*228L		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	zinc finger, MYND domain containing 19	228						Golgi apparatus|plasma membrane	zinc ion binding			skin(1)	1	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCCTGCCCGTCATCGCTCTGG	0.617			NA											16	42					2.23348e-06	2.47598e-06	0.004007	1	0
PHF8	23133	broad.mit.edu	37	X	54040885	54040885	+	Silent	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chrX:54040885G>A	uc004dsu.2	-	7	889	c.816C>T	c.(814-816)CTC>CTT	p.L272L	PHF8_uc004dst.2_Silent_p.L236L|PHF8_uc004dsv.2_Silent_p.L102L|PHF8_uc004dsw.2_Silent_p.L236L|PHF8_uc004dsx.2_5'UTR|PHF8_uc004dsy.2_Silent_p.L236L	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	272	JmjC.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3						GCACACTCATGAGGCAGTACT	0.478			NA											33	12					0	0	0.002445	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912927	77912927	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chrX:77912927G>A	uc004edc.1	-	2	1287	c.991C>T	c.(991-993)CAA>TAA	p.Q331*		NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	331							nucleic acid binding|zinc ion binding			ovary(1)	1						TGGCAGAGTTGATGGATGCAC	0.468			NA											17	4					0	0	0.00499	0	0
ZBTB33	10009	broad.mit.edu	37	X	119387407	119387407	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chrX:119387407A>T	uc004esn.1	+	2	365	c.137A>T	c.(136-138)CAC>CTC	p.H46L	ZBTB33_uc010nqm.1_Missense_Mutation_p.H46L	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	kaiso	46	BTB.|Self-association (By similarity).|Interaction with NCOR1.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TTCCGGGCTCACAAGAATATT	0.453			NA											116	63					0	0	0.00361	0	0
L1CAM	3897	broad.mit.edu	37	X	153136268	153136268	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chrX:153136268G>A	uc004fjb.2	-	6	779	c.671C>T	c.(670-672)CCC>CTC	p.P224L	L1CAM_uc004fjc.2_Missense_Mutation_p.P224L|L1CAM_uc010nuo.2_Missense_Mutation_p.P219L|L1CAM_uc004fjd.1_Missense_Mutation_p.P38L|L1CAM_uc004fje.1_Missense_Mutation_p.P219L	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	224	Extracellular (Potential).|Ig-like C2-type 2.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGGTCAATGGGTTCCTTCTG	0.572			NA											27	30					0	0	0.005443	0	0
C10orf25	220979	broad.mit.edu	37	10	45496165	45496165	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr10:45496165delG	uc001jbv.1	-	1	172	c.143delC	c.(142-144)CCAfs	p.P48fs	C10orf25_uc010qff.1_RNA|ZNF22_uc001jbw.2_5'Flank	NM_001039380	NP_001034469	Q5T742	CJ025_HUMAN	hypothetical protein LOC220979 precursor	48						extracellular region					0						GCTAGAGTTTGGTTTCAAAAG	0.423			NA											15	28	---	---	---	---	NA	NA	NA	NA	NA
MUC6	4588	broad.mit.edu	37	11	1017661	1017663	+	In_Frame_Del	DEL	TGT	TGT	-	rs72022620		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr11:1017661_1017663delTGT	uc001lsw.2	-	31	5189_5191	c.5138_5140delACA	c.(5137-5142)AACATC>ATC	p.N1713del		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1713	Thr-rich.|1; truncated.|Approximate repeats.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGGGGGTGATGTTGGTGGTAGA	0.527			NA											7	923	---	---	---	---	NA	NA	NA	NA	NA
KRT73	319101	broad.mit.edu	37	12	53012229	53012229	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:53012229delC	uc001sas.2	-	1	115	c.80delG	c.(79-81)GGCfs	p.G27fs		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	27	Head.|Gly-rich.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGATGAGCTGCCCCCTGAGAG	0.632			NA											54	88	---	---	---	---	NA	NA	NA	NA	NA
HAL	3034	broad.mit.edu	37	12	96388596	96388604	+	Splice_Site	DEL	TGCTGTATC	TGCTGTATC	-	rs147252912		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	TGCTGTATC	TGCTGTATC	-	-	TGCTGTATC	TGCTGTATC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:96388596_96388604delTGCTGTATC	uc001tem.1	-	4	606	c.309_splice	c.e4-1	p.L103_splice	HAL_uc009zti.1_Splice_Site|HAL_uc010suw.1_Splice_Site|HAL_uc010sux.1_Splice_Site_p.L103_splice	NM_002108	NP_002099	P42357	HUTH_HUMAN	histidine ammonia-lyase						biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			ovary(2)|skin(1)	3					L-Histidine(DB00117)	TCCCGGTACTTGCTGTATCTGTATCCAGG	0.483	NSCLC(169;943 2815 23563 30031)		NA											37	107	---	---	---	---	NA	NA	NA	NA	NA
MED16	10025	broad.mit.edu	37	19	889717	889717	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:889717delC	uc002lqd.1	-	4	519	c.368delG	c.(367-369)GGCfs	p.G123fs	MED16_uc002lqe.2_Frame_Shift_Del_p.G112fs|MED16_uc002lqf.2_Frame_Shift_Del_p.G112fs|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Frame_Shift_Del_p.G112fs|MED16_uc010xfx.1_Frame_Shift_Del_p.G112fs|MED16_uc010xfy.1_Frame_Shift_Del_p.G112fs	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	123					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTAGGCTGCCCACTGAGCT	0.627			NA											15	15	---	---	---	---	NA	NA	NA	NA	NA
STK11	6794	broad.mit.edu	37	19	1220432	1220432	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:1220432delG	uc002lrl.1	+	4	1640	c.525delG	c.(523-525)AAGfs	p.K175fs		NM_000455	NP_000446	Q15831	STK11_HUMAN	serine/threonine protein kinase 11	175	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(19)|p.Y156fs*87(4)|p.?(4)|p.G52_P179del(1)		lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGTGCACAAGGACATCAAGC	0.657			14	D|Mis|N|F|S		NSCLC|pancreatic	jejunal harmartoma|ovarian|testicular|pancreatic			Peutz-Jeghers_syndrome	TSP Lung(3;<1E-08)			7	7	---	---	---	---	NA	NA	NA	NA	NA
ZNF28	7576	broad.mit.edu	37	19	53303512	53303512	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:53303512delC	uc002qad.2	-	4	1706	c.1586delG	c.(1585-1587)GGCfs	p.G529fs	ZNF28_uc002qac.2_Frame_Shift_Del_p.G476fs|ZNF28_uc010eqe.2_Frame_Shift_Del_p.G475fs	NM_006969	NP_008900	P17035	ZNF28_HUMAN	zinc finger protein 28	529	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		AAAAACCTTGCCACATTCATT	0.388			NA											46	106	---	---	---	---	NA	NA	NA	NA	NA
USP29	57663	broad.mit.edu	37	19	57640737	57640738	+	Frame_Shift_Ins	INS	-	-	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:57640737_57640738insC	uc002qny.2	+	4	1050_1051	c.694_695insC	c.(694-696)TGTfs	p.C232fs		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	232					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAATACCAACTGTAATGGAAAT	0.396			NA											45	94	---	---	---	---	NA	NA	NA	NA	NA
SATB1	6304	broad.mit.edu	37	3	18436169	18436180	+	In_Frame_Del	DEL	ACTGCTGGTTCA	ACTGCTGGTTCA	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	ACTGCTGGTTCA	ACTGCTGGTTCA	-	-	ACTGCTGGTTCA	ACTGCTGGTTCA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr3:18436169_18436180delACTGCTGGTTCA	uc003cbh.2	-	7	2715_2726	c.980_991delTGAACCAGCAGT	c.(979-993)CTGAACCAGCAGTAT>CAT	p.327_331LNQQY>H	SATB1_uc003cbi.2_In_Frame_Del_p.327_331LNQQY>H|SATB1_uc003cbj.2_In_Frame_Del_p.327_331LNQQY>H	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	327_331					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						TTCACTGCATACTGCTGGTTCAGCAGCTGAGC	0.505			NA											29	96	---	---	---	---	NA	NA	NA	NA	NA
NMUR2	56923	broad.mit.edu	37	5	151784497	151784497	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:151784497delC	uc003luv.2	-	1	344	c.178delG	c.(178-180)GTCfs	p.V60fs		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	60	Helical; Name=1; (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			TTGCCAATGACCCCCACCACA	0.577			NA											28	50	---	---	---	---	NA	NA	NA	NA	NA
AARS2	57505	broad.mit.edu	37	6	44278144	44278144	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr6:44278144delC	uc010jza.1	-	5	789	c.786delG	c.(784-786)CGGfs	p.R262fs	SPATS1_uc003oxg.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	262					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	TGTCCACATGCCGCTGGGGCA	0.607			NA											7	34	---	---	---	---	NA	NA	NA	NA	NA
RBM10	8241	broad.mit.edu	37	X	47032582	47032582	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chrX:47032582delG	uc004dhf.2	+	5	867	c.488delG	c.(487-489)CGGfs	p.R163fs	RBM10_uc004dhe.1_Frame_Shift_Del_p.R153fs|RBM10_uc004dhg.2_Frame_Shift_Del_p.R86fs|RBM10_uc004dhh.2_Frame_Shift_Del_p.R163fs|RBM10_uc010nhq.2_Frame_Shift_Del_p.R86fs|RBM10_uc004dhi.2_Frame_Shift_Del_p.R228fs	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	163	RRM 1.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						CGGCTGATGCGGAACAAATCT	0.602	Melanoma(171;120 2705 19495 39241)		NA											19	7	---	---	---	---	NA	NA	NA	NA	NA
